"Ambry Genetics"[submitter] AND "ACAA1"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2511518	NM_001607.4(ACAA1):c.1246G>A (p.Ala416Thr)	ACAA1, DLEC1 (A323T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2341655	NM_001607.4(ACAA1):c.1228G>A (p.Gly410Arg)	ACAA1, DLEC1 (G317R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2361331	NM_001607.4(ACAA1):c.1154G>A (p.Arg385Gln)	ACAA1 (R292Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262662	NM_001607.4(ACAA1):c.1087C>G (p.Pro363Ala)	ACAA1 (P270A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614044	NM_001607.4(ACAA1):c.1085C>T (p.Pro362Leu)	ACAA1 (P362L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350670	NM_001607.4(ACAA1):c.866G>A (p.Arg289Gln)	ACAA1 (R289Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2216920	NM_001607.4(ACAA1):c.808A>G (p.Thr270Ala)	ACAA1 (T270A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133380	NM_001607.4(ACAA1):c.596A>G (p.Gln199Arg)	ACAA1 (Q166R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266735	NM_001607.4(ACAA1):c.504G>C (p.Leu168Phe)	ACAA1 (L168F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3133374	NM_001607.4(ACAA1):c.499C>T (p.Arg167Cys)	ACAA1 (R167C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2351849	NM_001607.4(ACAA1):c.497C>T (p.Ser166Leu)	ACAA1 (S166L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2342055	NM_001607.4(ACAA1):c.488A>G (p.Asn163Ser)	ACAA1 (N163S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2384607	NM_001607.4(ACAA1):c.457A>T (p.Met153Leu)	ACAA1 (M153L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3133368	NM_001607.4(ACAA1):c.391G>T (p.Ala131Ser)	ACAA1 (A131S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133367	NM_001607.4(ACAA1):c.364C>G (p.Gln122Glu)	ACAA1 (Q122E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460389	NM_001607.4(ACAA1):c.350C>T (p.Ser117Phe)	ACAA1 (S117F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384154	NM_001607.4(ACAA1):c.289G>A (p.Gly97Arg)	ACAA1 (G97R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133357	NM_001607.4(ACAA1):c.226G>A (p.Val76Met)	ACAA1 (V76M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133354	NM_001607.4(ACAA1):c.214G>C (p.Val72Leu)	ACAA1 (V72L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258264	NM_001607.4(ACAA1):c.166T>G (p.Phe56Val)	ACAA1 (F56V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133348	NM_001607.4(ACAA1):c.136A>G (p.Thr46Ala)	ACAA1 (T46A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494832	NM_001607.4(ACAA1):c.134G>T (p.Arg45Leu)	ACAA1 (R45L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521622	NM_001607.4(ACAA1):c.95A>G (p.Gln32Arg)	ACAA1 (Q32R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2463256	NM_001607.4(ACAA1):c.28C>T (p.His10Tyr)	ACAA1 (H10Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538794	NM_001607.4(ACAA1):c.26G>A (p.Gly9Asp)	ACAA1 (G9D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 25